Dwarfism, primordial disproportionate, PRDM10-related
Phenotype Details
- Phene ID
- 6686
- Name
- Dwarfism, primordial disproportionate, PRDM10-related
- Phene Name
- N/A
- OMIA ID
- 3013
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2025
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1840 | Dwarfism, primordial disproportionate | 398299054 | 1 | 29 | NC_037356.1:g.36138136G>A | NM_001191168.1:c.866C>T | NP_001178097.1:p.(P289L) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Angus (Cattle) | 44 | 9913 | http://purl.obolibrary.org/obo/VBO_0000104 |
Molecular Genetics
Jacinto et al (2025) investigated two half-sib Angus calves with chondrodysplasia leading to primordial disproportionate dwarfism in a whole genome sequencing approach: "Assuming a dominant MOI [mode of inheritance], a heterozygous pathogenic missense variant was found in exon 6 of PRDM10 leading to an amino acid exchange in PRDM10 at position 289, located in the PR-SET domain (Chr29:g.36138136G > A; c.866C > T; p.Pro289Leu) [omia.variant:1840]. We speculate that the candidate variant was inherited from a germinal mosaic sire."